Results 1 to 10 of about 6,585,062 (339)

Biosensors for Point Mutation Detection [PDF]

open access: yesFrontiers in Bioengineering and Biotechnology, 2021
Point mutations referring to a single base pair change, have a profound effect on the phenotype and play important roles in the variety of diseases (Nasis et al., 2004; Silva et al., 2017; Breveglieri et al., 2018).
Hanlin Jiang   +3 more
doaj   +4 more sources

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) [PDF]

open access: greenNucleic Acids Research, 1989
We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction ...
Charles R. Newton   +7 more
openalex   +2 more sources

Getting to the point (mutation). [PDF]

open access: yesFertility and Sterility, 2021
S. Karipcin, Shan Wei, Zev Williams
semanticscholar   +4 more sources

Salmonella enteritidis acquires phage resistance through a point mutation in rfbD but loses some of its environmental adaptability [PDF]

open access: yesVeterinary Research
Phage therapy holds promise as an alternative to antibiotics for combating multidrug-resistant bacteria. However, host bacteria can quickly produce progeny that are resistant to phage infection.
Yukun Zeng   +5 more
doaj   +2 more sources

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification [PDF]

open access: yesFrontiers in Genetics
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi   +13 more
doaj   +2 more sources

Point Mutation Rate of Bacteriophage ΦX174 [PDF]

open access: yesGenetics, 2009
Abstract The point mutation rate of phage ΦX174 was determined using the fluctuation test. After identifying the genetic changes associated with the selected phenotype, we obtained an estimate of 1.0 × 10−6 substitutions per base per round of copying, which is consistent with Drake's rule (0.003 mutations per genome per round of copying ...
J. Cuevas, S. Duffy, R. Sanjuán
semanticscholar   +4 more sources

Surface charge changes in spike RBD mutations of SARS-CoV-2 and its variant strains alter the virus evasiveness via HSPGs: A review and mechanistic hypothesis

open access: yesFrontiers in Public Health, 2022
With the COVID-19 pandemic continuing, more contagious SARS-CoV-2 variants, including Omicron, have been emerging. The mutations, especially those that occurred on the spike (S) protein receptor-binding domain (RBD), are of significant concern due to ...
Zhongyun Zhang   +5 more
doaj   +1 more source

Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori

open access: yesGut and Liver, 2021
Background/Aims: Point mutations in the 23S ribosomal RNA gene have been associated with Helicobacter pylori clarithromycin resistance. This study aimed to detect the prevalence of these point mutations and to investigate the role of different point ...
Sang Yoon Kim   +7 more
doaj   +1 more source

Variability of Iron Load in Patients of Sickle Cell Anaemia (HbSS): A study from Eastern India [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2017
Introduction: Sickle Cell Anaemia (SCA) is one of the commonest haemoglobinopathies due to a point mutation (A→T) of the b-globin gene. Out of five haplotypes, the Arab-Indian haplotype present in India is one of the least severe phenotype and least ...
Pranati Mohanty   +2 more
doaj   +1 more source

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